Next-generation sequencing reveals germline mutations in an infant with synchronous occurrence of nephro- and neuroblastoma.
Pediatr Hematol Oncol
; 33(4): 264-75, 2016 May.
Article
em En
| MEDLINE
| ID: mdl-27285993
ABSTRACT
Although neuro- and nephroblastoma are common solid tumors in children, the simultaneous occurrence is very rare and is often associated with syndromes. Here, we present a unique case of synchronous occurrence of neuro- and nephroblastoma in an infant with no signs of congenital anomalies or a syndrome. We performed genetic testing for possible candidate genes as underlying mutation using the next-generation sequencing (NGS) approach to target 94 genes and 284 single-nucleotide polymorphisms (SNPs) involved in cancer. We uncovered a novel heterozygous germline missense mutation p.F58L (c.172TâC) in the anaplastic lymphoma kinase (ALK) gene and one novel heterozygous rearrangement Q418Hfs(*)11 (c.1254_1264delins TTACTTAGTACAAGAACTG) in the Fanconi anemia gene FANCD2 leading to a truncated protein. Besides, several SNPs associated with the occurrence of neuroblastoma and/or nephroblastoma or multiple primary tumors were identified. The next-generation sequencing approach might in the future be useful not only in understanding tumor etiology but also in recognizing new genetic markers and targets for future personalized therapy.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação em Linhagem Germinativa
/
Tumor de Wilms
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Sequenciamento de Nucleotídeos em Larga Escala
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Neoplasias Renais
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Neoplasias Primárias Múltiplas
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Neuroblastoma
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Alemanha